Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Tnnt3'

437027

Institutional Source

Beutler Lab

Gene Symbol

Tnnt3

Ensembl Gene

ENSMUSG00000061723

Gene Name

troponin T3, skeletal, fast

Synonyms

skeletal muscle fast-twitch TnT, fTnT

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142052573-142069746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142065777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 138 (E138G)

Ref Sequence

ENSEMBL: ENSMUSP00000137111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074187] [ENSMUST00000078497] [ENSMUST00000105941] [ENSMUST00000105942] [ENSMUST00000105943] [ENSMUST00000105944] [ENSMUST00000105945] [ENSMUST00000105946] [ENSMUST00000105947] [ENSMUST00000105948] [ENSMUST00000105949] [ENSMUST00000105950] [ENSMUST00000105952] [ENSMUST00000105953] [ENSMUST00000105954] [ENSMUST00000105955] [ENSMUST00000105957] [ENSMUST00000105958] [ENSMUST00000128294] [ENSMUST00000146804] [ENSMUST00000169299] [ENSMUST00000179658] [ENSMUST00000180152]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074187
AA Change: E114G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073815
Gene: ENSMUSG00000061723
AA Change: E114G

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	1.5e-42	PFAM
low complexity region	233	245	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000078497
AA Change: E134G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077587
Gene: ENSMUSG00000061723
AA Change: E134G

Domain	Start	End	E-Value	Type
coiled coil region	1	48	N/A	INTRINSIC
Pfam:Troponin	72	214	2.1e-42	PFAM
low complexity region	253	265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105941
AA Change: E114G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101561
Gene: ENSMUSG00000061723
AA Change: E114G

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	2.1e-42	PFAM
low complexity region	229	245	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105942
AA Change: E105G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101562
Gene: ENSMUSG00000061723
AA Change: E105G

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Troponin	43	185	1.7e-42	PFAM
low complexity region	224	236	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105943
AA Change: E105G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101563
Gene: ENSMUSG00000061723
AA Change: E105G

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Troponin	43	185	1.9e-42	PFAM
low complexity region	220	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105944
AA Change: E116G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101564
Gene: ENSMUSG00000061723
AA Change: E116G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:Troponin	54	196	2e-42	PFAM
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105945
AA Change: E114G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101565
Gene: ENSMUSG00000061723
AA Change: E114G

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	1.5e-42	PFAM
low complexity region	233	245	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105946
AA Change: E120G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101566
Gene: ENSMUSG00000061723
AA Change: E120G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.8e-42	PFAM
low complexity region	235	251	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105947
AA Change: E125G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101567
Gene: ENSMUSG00000061723
AA Change: E125G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	63	205	1.9e-42	PFAM
low complexity region	240	256	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105948
AA Change: E116G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101568
Gene: ENSMUSG00000061723
AA Change: E116G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:Troponin	54	196	2.2e-42	PFAM
low complexity region	231	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105949
AA Change: E110G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101569
Gene: ENSMUSG00000061723
AA Change: E110G

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:Troponin	48	190	1.8e-42	PFAM
low complexity region	229	241	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105950
AA Change: E128G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101570
Gene: ENSMUSG00000061723
AA Change: E128G

Domain	Start	End	E-Value	Type
coiled coil region	3	42	N/A	INTRINSIC
Pfam:Troponin	66	208	1.9e-42	PFAM
internal_repeat_1	213	240	4.67e-5	PROSPERO
low complexity region	247	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105952
AA Change: E125G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101572
Gene: ENSMUSG00000061723
AA Change: E125G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	63	205	1.8e-42	PFAM
low complexity region	244	256	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105953
AA Change: E128G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101573
Gene: ENSMUSG00000061723
AA Change: E128G

Domain	Start	End	E-Value	Type
coiled coil region	3	42	N/A	INTRINSIC
Pfam:Troponin	66	208	1.9e-42	PFAM
low complexity region	247	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105954
AA Change: E129G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101574
Gene: ENSMUSG00000061723
AA Change: E129G

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
Pfam:Troponin	67	209	1.9e-42	PFAM
low complexity region	248	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105955
AA Change: E121G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101575
Gene: ENSMUSG00000061723
AA Change: E121G

Domain	Start	End	E-Value	Type
coiled coil region	1	36	N/A	INTRINSIC
Pfam:Troponin	59	201	2.2e-42	PFAM
low complexity region	240	252	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105957
AA Change: E125G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101577
Gene: ENSMUSG00000061723
AA Change: E125G

Domain	Start	End	E-Value	Type
low complexity region	4	36	N/A	INTRINSIC
Pfam:Troponin	63	205	1.8e-42	PFAM
low complexity region	244	256	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105958
AA Change: E138G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101578
Gene: ENSMUSG00000061723
AA Change: E138G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	218	2.1e-42	PFAM
low complexity region	253	269	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144259

Predicted Effect

probably benign
Transcript: ENSMUST00000128294

SMART Domains

Protein: ENSMUSP00000116223
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:Troponin	49	107	3.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153262

Predicted Effect

probably damaging
Transcript: ENSMUST00000146804
AA Change: E111G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116087
Gene: ENSMUSG00000061723
AA Change: E111G

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:Troponin	49	191	1.4e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169299
AA Change: E120G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127854
Gene: ENSMUSG00000061723
AA Change: E120G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.8e-42	PFAM
low complexity region	235	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179658
AA Change: E138G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136278
Gene: ENSMUSG00000061723
AA Change: E138G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	212	1.5e-36	PFAM
low complexity region	257	269	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180152
AA Change: E138G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137111
Gene: ENSMUSG00000061723
AA Change: E138G

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	218	5.1e-42	PFAM
internal_repeat_1	223	250	2.76e-5	PROSPERO
low complexity region	257	269	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Abl1	C	T	2: 31,669,086 (GRCm39)	A155V	probably damaging	Het
Aco2	T	A	15: 81,787,787 (GRCm39)	D212E	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Cilp	A	C	9: 65,187,515 (GRCm39)	R1203S	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Ep400	A	T	5: 110,904,071 (GRCm39)	V176E	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,735,309 (GRCm39)	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	probably benign	Het

Other mutations in Tnnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02247:Tnnt3	APN	7	142,062,062 (GRCm39)	intron	probably benign
IGL02376:Tnnt3	APN	7	142,066,295 (GRCm39)	missense	possibly damaging	0.64
R0432:Tnnt3	UTSW	7	142,065,823 (GRCm39)	missense	probably benign	0.09
R0463:Tnnt3	UTSW	7	142,066,072 (GRCm39)	missense	probably benign	0.25
R1421:Tnnt3	UTSW	7	142,065,103 (GRCm39)	missense	probably damaging	0.97
R1521:Tnnt3	UTSW	7	142,069,562 (GRCm39)	nonsense	probably null
R1789:Tnnt3	UTSW	7	142,066,101 (GRCm39)	missense	probably damaging	1.00
R1990:Tnnt3	UTSW	7	142,065,262 (GRCm39)	missense	possibly damaging	0.78
R1991:Tnnt3	UTSW	7	142,065,262 (GRCm39)	missense	possibly damaging	0.78
R2029:Tnnt3	UTSW	7	142,066,364 (GRCm39)	splice site	probably benign
R2216:Tnnt3	UTSW	7	142,066,301 (GRCm39)	missense	probably benign	0.03
R4779:Tnnt3	UTSW	7	142,068,020 (GRCm39)	intron	probably benign
R5756:Tnnt3	UTSW	7	142,056,495 (GRCm39)	critical splice donor site	probably null
R5994:Tnnt3	UTSW	7	142,065,003 (GRCm39)	missense	probably damaging	1.00
R6265:Tnnt3	UTSW	7	142,055,382 (GRCm39)	missense	probably damaging	0.98
R7658:Tnnt3	UTSW	7	142,065,833 (GRCm39)	nonsense	probably null
R8280:Tnnt3	UTSW	7	142,055,359 (GRCm39)	missense	unknown
R9074:Tnnt3	UTSW	7	142,065,823 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCTGGTGCCTAATGTGCTTAG -3'
(R):5'- CCGGTCTCAGAAAGGTACATG -3'

Sequencing Primer
(F):5'- AGATTCCTTATACTGGGGCCC -3'
(R):5'- GGGACAAACACCCGCCTC -3'

Posted On

2016-10-24